Bakshi Sonal R, Brahmbhatt Manisha M, Trivedi Pina J, Dalal Esha N, Patel Dharmesh M, Purani Sejal S, Shukla Shilin N, Shah Pankaj M, Patel Prabhudas S
Department of Cancer Biology, Cell Biology Division, The Gujarat Cancer and Research Institute, NCH Campus, Asarwa, Ahmedabad, Gujarat, India.
Indian J Hum Genet. 2012 Jan;18(1):106-8. doi: 10.4103/0971-6866.96673.
Trisomy of chromosome 8 is frequently reported in myeloid lineage disorders and also detected in lymphoid neoplasms as well as solid tumors suggesting its role in neoplastic progression in general. It is likely to be a disease-modulating secondary event with underlying cryptic aberrations as it has been frequently reported in addition to known abnormalities contributing to clinical heterogeneity and modifying prognosis. Here, we share our findings of trisomy 8 in leukemia patients referred for diagnostic and prognostic cytogenetic assessment. Total 60 cases of trisomy 8, as a sole anomaly or in addition to other chromosomal aberrations, were reported (January 2005-September 2008). Unstimulated bone marrow or blood samples were cultured, followed by GTG banding and karyotyping as per the ISCN 2005. Patients with +8 were chronic myeloid leukemia (CML) (36), acute myeloid leukemia (AML) (17), and acute lymphoblastic leukemia (ALL) (7). In 7 patients, trisomy 8 was the sole anomaly, whereas in 6 patients +8 was in addition to normal clone, in 47 patients, the +8 was in addition to t(9;22), t(15;17), and others, including 3 with tetrasomy 8. Only one patient showed constitutional +8. The present study will form the basis of further cumulative studies to correlate potential differential effects of various karyotypic anomalies on disease progression and survival following a therapeutic regime. To unravel the role of extra 8 chromosome, constitutional chromosomal analysis and uniparental disomy will be considered.
8号染色体三体在髓系谱系疾病中经常被报道,在淋巴样肿瘤以及实体瘤中也能检测到,这表明其在肿瘤进展中总体上发挥着作用。它可能是一种具有潜在隐匿性畸变的疾病调节性继发事件,因为除了已知的导致临床异质性和改变预后的异常情况外,它也经常被报道。在此,我们分享在因诊断和预后细胞遗传学评估而转诊的白血病患者中8号染色体三体的研究结果。共报告了60例8号染色体三体病例,其为唯一异常或除其他染色体畸变外还存在该异常(2005年1月至2008年9月)。未刺激的骨髓或血液样本进行培养,然后按照2005年国际人类细胞遗传学命名法(ISCN)进行GTG显带和核型分析。有+8的患者包括慢性髓性白血病(CML)(36例)、急性髓性白血病(AML)(17例)和急性淋巴细胞白血病(ALL)(7例)。在7例患者中,8号染色体三体是唯一异常,而在6例患者中,+8除正常克隆外还存在,在47例患者中,+8除t(9;22)、t(15;17)等异常外还存在,其中3例为8号染色体四体。只有1例患者表现为体质性+8。本研究将为进一步的累积研究奠定基础,以关联各种核型异常对治疗方案后疾病进展和生存的潜在差异影响。为了阐明额外的8号染色体的作用,将考虑进行体质性染色体分析和单亲二体分析。